Phenotype #0000332706

Individual ID	00443364
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	weight 90 kg (90th), height 150 cm (below the 1st), OFC 57 cm (91st); moderate global developmental delay/intellectual disability; single words; spasticity; cerebellar ataxia; Ataxic/Spastic; no tremor; no head tremor; no tics, no tic-like vocalizations; no seizures; aggression; no self-injury; tantrum temper; sleep disturbance; coarse face; no deep set eyes; no lateral upslanting palpebral fissures; no broad nose, no depressed nasal bridge; thin upper lip; no everted lower lip; no prognathia; Premature aging, Kyphosis; MRI brain Hypoplasia of posterior corpus callosum, anterior commissure agenesis, incomplete hippocampal rotation, short midbrain, and hypoplasia of the inferior cerebellar vermis
Inheritance	Familial, autosomal recessive
Age/Examination	25y (25 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-11-25 19:15:23 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD